Overview

This ENU-induced point mutation in non-coding sequence provides a strong model for late-infantile neuronal ceroid lipofuscinosis without the caveats associated with neomycin phosphotransferase.

Genetic overview

Genetic Background	Generation

Tpp1^m1J

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Tpp1	tripeptidyl peptidase I

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Research Applications

Neurobiology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Homozyogtes can be phenotypically identified by a tremor and hunched posture by 3.5 to 4 months of age. The tremor is intermittent and more pronounced when walking. The tremor, ataxia, and diminished locomotion progress and homozygotes die by 6 months of age. Myelin figures in the white matter, and eosinophilic and luxol fast blue positive neuronal inclusions are found, but retinal degeneration and diminished electroretinogram readings are not found. The molecular defect is a T to C point mutation in a splice donor site just downstream of exon 8. While this is a good model for late-infantile neuronal ceroid lipofuscinosis, the lack of an ocular phenotype differs from the disease in human.

Development

The Tpp1^m1J mutation was identified in the progeny of an ENU treated C57BL/6J, which was part of a region-specific mutagenesis screen in the laboratory of Dr. Simon John. The mutagenized C57BL/6J male was bred to C3Fe.Cg-Rw heterozygous females, and a male F1 offspring that was heterozygous for Rw and any ENU-induced mutations was bred to a C3Fe.Cg-Hm +/+ Rw female. One of their female offspring heterozygous for Rw and any inherited ENU-induced mutations was backcrossed to its F1 father (also heterozygous for Rw and any ENU-induced mutations). The recessive Tpp1^m1J mutation was identified in their progeny and this mutant was used to propagate a line that was sibling inbred to homozygosity. At F18 this line was outcrossed once to C57BL/6J and then again intercrossed to homozygosity, reaching generation F18N1F12 in 2013. Thus, this STOCK background consists predominantly of C57BL/6J and C3HeB/FeJ with possible trace contributions from C3H/HeH, 101/H and other undefined backgrounds.

Control Suggestions

Approximate Controls

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Karst SY; Reinholdt LG; Fairfield HE; Bronson RT; Berry ML; Bergstrom DE; Donahue LR. 2013. A novel point mutation in Tpp1 provides a new model for late-infantile neuronal ceroid lipofuscinosis MGI Direct Data SubmissionMGI: J:201119

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Genetics

Tpp1^m1J

Allele Symbol: Tpp1^m1J

Allele Name	mutation 1, Jackson
Allele Type	Chemically induced (ENU)
Allele Synonym(s)	Tpp1^m1J; mutation 1, Jackson
Gene Symbol and Name	Tpp1, tripeptidyl peptidase I
Gene Synonym(s)	ceroid-lipofuscinosis, neuronal 2; LPIC; CLN2; SCAR7; TPP-1; Cln2; GIG1; Cln2
Strain of Origin	C57BL/6J
Chromosome	7
Molecular Note	A single T to C transition at position 112,897,395 (MGSCv37) in Chromosome 7 alters a splice donor site.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

neuronal ceroid lipofuscinosis 2

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Tpp1^m1J related

Neurobiology Research
- Ataxia (Movement) Defects
- Neurodegeneration
- Tremor Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Tpp1^m1J/Tpp1^m1J
STOCK Tpp1/GrsrJ

behavior/neurological phenotype

hunched posture
- evident by 3.5 to 4 months of age

tremors
- evident by 3.5 to 4 months of age, tremor initially appears intermittent and more pronounced when walking then becomes constant as overall symptoms worsen with age

mortality/aging

premature death
- all homozygotes die by 6 months of age

muscle phenotype

myopathy
- histology at 6 weeks of age reveals a few inflammed and degenerating muscle fibers, and at 19 weeks of age there are inclusions in muscle, small muscle fibers and rowing of nuclei in muscle fibers

nervous system phenotype

neuronal cytoplasmic inclusions
- by 17 weeks of age there are eosinophilic and luxol fast blue positive cytoplasmic inclusions in motor neurons in spinal cord and other large neurons in the brain
- by 19 weeks of age there are also myelin figures in the white matter and inclusions in muscle and bone marrow macrophages

References

Karst SY; Reinholdt LG; Fairfield HE; Bronson RT; Berry ML; Bergstrom DE; Donahue LR. 2013. A novel point mutation in Tpp1 provides a new model for late-infantile neuronal ceroid lipofuscinosis MGI Direct Data SubmissionMGI: J:201119

Additional - Tpp1^m1J related

Technical Support

Contact Technical Support

Genotyping Protocols
- Sanger sequencing:Tpp1^m1J
- Genotyping resources and troubleshooting
Appearance
- Appearance: black
  Associated Genotype: a/a
Citation
When using the STOCK Tpp1^m1J/GrsrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #012876 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous for Tpp1<m1J>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.

Related Products and Services

Frozen Mouse Embryo	STOCK Tpp1<m1J>/GrsrJ Frozen Embryos	$2595.00
Frozen Mouse Embryo	STOCK Tpp1<m1J>/GrsrJ Frozen Embryos	$2595.00
Frozen Mouse Embryo	STOCK Tpp1<m1J>/GrsrJ Frozen Embryos	$3373.50
Frozen Mouse Embryo	STOCK Tpp1<m1J>/GrsrJ Frozen Embryos	$3373.50

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.

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Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of, PRODUCTS or SERVICES, JACKSON will, at its option, provide credit or replacement for the PRODUCT received or the SERVICES provided; JACKSON makes no other representations and this shall be the exclusive remedy of the purchaser. Please note specific policy for live mice.

Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Selected References

Tpp1m1J

Allele Symbol: Tpp1m1J

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Genotype

This mouse can be used to support research in many areas including:

Genotype: Tpp1m1J related

Mammalian Phenotype Terms by Genotype

Genotype: Tpp1m1J/Tpp1m1JSTOCK Tpp1/GrsrJ

behavior/neurological phenotype

mortality/aging

muscle phenotype

nervous system phenotype

References

Additional - Tpp1m1J related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Tpp1^m1J

Allele Symbol: Tpp1^m1J

Genotype: Tpp1^m1J related

Genotype: Tpp1^m1J/Tpp1^m1J
STOCK Tpp1/GrsrJ

Additional - Tpp1^m1J related